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hayley 1

Hiya just thought I'd see how you were getting on? I noticed in a post that you have heard from Pediatrician about Isaac and possibly some more tests. Hope it's not too much pf a shock for you. Do you know what they are going to test for yet? just wondering as Paul has been tested for loads so far including some of the muscular dystrophys I wonder whether your dr is thinking along the same lines.

Paul starting walking around a bit, he can walk holding my hand round the house and in the garden a bit, he falls very heavily though and we have to be very careful as his joints are so vulnerable but he is doing so well. he has taken a few little shuffle steps on his own too, he'll do it on the carpet bless him he must know its a bit safer hehe.

hope things are ok anyway.


  • Hiya chriss, the paed has already tested Isaac for duchenne muscular dystrophy, that came about from his appointment in June when he was seeing him for something unrelated, he looked at the way Isaac gets up from the floor and he does something called a gowers sign which is apparantly almost exclusive to dmd, thankfully he doesnt have that although they are still not sure what the problem is, he rang me back yesterday and has asked me to take Isaac in for more blood and urine tests, on 3 Sept, he said something about testing for a specific acid that can break down the muscle I cant remember what he called it but it is different from the CK enzyme that is present in DMD. He also has bloods stored to do genetic and chromosome tests and if Isaac still shows no improvement then he wants to do a muscle biopsy.

    Fantastic news that Paul is starting to walk a bit now, it must be those new boots. He is obviously a smart cookie if he has figured out that it hurts less to fall on the carpet, Isaac falls very heavily too and has constant bruises on his knees, becuase he is quite big for his age (he is 98th centile for height and weight) he looks older than he is so I have started getting comments about him being to big to be in his puschair which is annoying, he is only 2 anyway and even if he was older, why do people think they have a right to comment.
  • Don't get me started on comments, I think I deal pretty well with them but Paul is quite slight (2nd centile) so it's not been too much of an issue in that sense I bombard people with information on how many specialists we see and they seem to shut up quick, they do have a 'sorry for you' look about them but i don't care about that, it's their problem not mine.

    I do the gower sign thingy, but only discovered that after searching for some info on Congenital myopathy online, there was this little moving drawing of a child getting up off the floor and I showed my husband and said who does this? and it was almost exactly like me.

    Paul's had a biopsy but so far every test they have done has come back normal, I might be having one soon though so am hoping they'll be able to get some results from me.

    we were seed by the paed until paul was a couple of months old then we were referred to a neurologist have they said they may do this with Isaac?

    any sign of him getting regular physio, can't remember if i've asked you that already, with a lot of muscle conditions there is no cure or medication and it's all about continuing care, physio, occupational therapy etc, he should have access to this if they are at least looking into the diagnosis of a specific condition.

    sounds like things are moving on though, hope you get some more news soon.
  • just had a quick look at some of your other posts and can see you may be going to see a neurologist, the sooner the better in my book, we were very scared about seeing Paul's neuro but now we look forward to going even though there is no new information for us, they are amazing and see so many children with different conditions they can sometimes see things that other doctors would not pick up on. They always have a very long waiting list though so be prepared to wait again i'm afraid
  • Hi Chriss, he is on the list for physio but the lists here are huge so it may be some time yet, I spoke to the physio who said he is on the high priority urgent list but it could still be between 4 and 6 months before he is seen. The paed has mention nuero referral but I must admit I am not too happy, mainly because the centre for nuerology round here is Addenbrookes hospital and we have had a lot of dealings with them with hubby and his brain tumour and I have been less than impressed with the communication and the fact that at that hospital you definitely seem to be a number not a person, my hv did suggest that I could ask for a different hospital, either GOSH or Birmingham childrens, if the paed mentions it again I think I will ask him about it.

    We are back at the paed on Thursday for more tests so I am preparing a huge list of questions I have ready as I always go in meaning to ask things and never remember.

    We have just been away on holiday for a week and it was fantastic, I managed to spend a whole week not worrying about what he wasnt doing, for once I actually felt like a 'normal' Mummy :\)

    Must admit I have started to ifnore the comments now I just give people that "what the hell has it got to do with you" look and they soon stop, Phils mum is the worst, she is forever telling me that Isaac is fat (which he isnt, the paed said he is the correct weight for his height) although she did visit before our holiday and managed to do the whole visit without commenting on his weight, although she excelled herself by saying "oh its a shame about his legs, he looks so normal" Thats becuase he is normal you stupid woman!!! Grrr mother in laws!
  • Oh God what a comment, I'm not quite sure what I'd do if my MIL said that.

    Glad you had a nice holiday, it really does do you good to get away from things.

    We are very lucky here as we have Alder Hey Childrens hospital which has an amazing Neurology department. If I were you I'd opt for a childrens hospital wherever possible, they are just so different, I go to 'The Walton Centre' which is a specialist neurology centre for adults and it is amazing, but I wouldn't want to have to take Paul there. The childrens hospitals are just much friendlier for the kids.

    I still have to write my questions down as I can never remember what I wanted to say and we've been going for ages now, it helps me to mentally prepare too. does the Dr know that your daughter and you also have problems? has he thought about referring you for some tests? is it something you'd be up for? My neurologist seems to think she will find out what's wrong through me first, however I must say Paul's Neuro thinks it will come from him first hehe, who knows.

    It sounds like things are moving on for you anyway, I would just keep pestering your physio appt you never know, they might get fed up of you and just book you in. When is Isaac due to go to pre-school/nursery? maybe you could suggest that he needs to have established physio before he goes as he may need extra help while in school (Paul has a care plan drawn up so they know how to look after him properly at nursery)

    good luck with your appt tomorrow I hope you get at least some of the answers ou need.

    keep us posted it's good to hear from you and Isaac seems to be doing so well.

    Take care


  • Hi Chriss, I have decided I am definitely going to push for a childrens hospital, I have been so stressed worrying about him going where Phil goes, to be honest if it was me being seen by them I would have demanded to be sent somewhere else but Phil doesnt want the hassle and as its him thats his choice I guess.

    I have a huge list of questions and concerns to raise tomorrow all written down, I was a bit worried that they might think I was a nuerotic pain in the backside mother, but hey its my little boy and I want answers so I dont care if they do think that (which I'm sure they dont, Isaacs paed is lovely). He already goes to a day nursery 2 mornings a week as I am going back to college and I must admit they are fantastic with him, he has to keep his shoes on all the time so they make sure he does, they help him sit down on the floor for story time and help him up if he needs it, they even had a mini sports day the other week with sack races and bless him he was the only one who couldnt jump so one of the staff got in with him and did it with him so he didnt miss out. I think though that the problems will start when he goes to the pre school and then onto school as its more of an educational and more formal setting so they may not be as willing to help him out. I think I might just leave him where he is untill he starts school and hopefully we will have a better idea of what is wrong and what his needs are by then.

    I have mentioned to the drs about my problems and also Megans, Megan is now having physio and even though since she was 2 I have been told she is hypermobile, the physio told me it is impossible to diagnose hypermobility in a child as all children are hypermobile to some degree, she did agree though that Megan has flexible joints and poor muscle tone so she has given her a load of excercises to do and we go back in 4 weeks. When I spoke to the dr about it, he said that was an unhelpful thing to say as yes all children are hypermobile to some degree, however Isaac definitely is excessively hypermobile so it is not impossible to diagnose, he also said that alot of the problems could be related to mine and Megans but he is an awful lot worse and struggles with so much more that he thinks there may be some other underlying cause.

    I will let you know how it goes tomorrow, although I think it will be a few days at least until we get any results as the appointment is at 3pm and they are doing blood and urine tests.
  • Your situations seem so similar to what we're going through. Lydia has her boots and is starting to walk about 8 steps unaided without falling over now but it is still very stilted and moves her whole body from side to side with each step. She sees a physio every 3-6 weeks and that seems to helping her quite well. We also see a team at Leeds which has a paed neurologist, 2 physios and an occupational therapist. They have been excellent, I have also been referred to an adult neurologist as they think they may be able to help with my issues too. I had an MRI scan to aviod Lydia having to go through one as we have so many similarities and our DNA has just been sent to a specialist unit in London so we await those results. Luckily, Lydia is 9th centile and is very petite so it isn't too back breaking. We applied for a blue badge on our paediatrician's advice and have been very fortunate to have been given one. I am so pleased as it makes things a lot easier to get her in and out of the car etc. Hope all goes well with paed, it's so nice to talk to others who understand!

  • Hi Charlotte, do they know what the problem is with Lydia yet. I think that is what gets to me, its not knowing what is wrong. I sort of want to know to get some answers but in another way I think I would rather not. Isaac is lucky in that he is walking now but he does still move his whole body from his hips ( not sure how that sounds but couldnt think of another way to put it) he has real difficulties with getting upstairs and cannot go downstairs, likewise getting up and down off the floor, he frequently falls over and the trouble is, becuase he is so big he is heavy to pick up and carry and he does look much older so that tends to invite the unwanted comments. Hopefully we will get some answers from his appaointment this afternoon. Hope you get yours and Lydias results through soon x
  • They are saying it is a congenital myopathy and are currently investigating which one by sending off the dna and bloods etc. Lydia moves exactly the same way when she walks (from the hips) and to get off the floor she puts her legs out, pushes her bum up and slowly takes weight on her arms to get up. She needs help getting up and down stairs but is getting stronger by the day. A blue badge would help you and when he gets to the age of three you may be able to get living allowance to help with things like second handrail up the stairs etc. I'm just glad Lydia is still able to fit in the pushchair. Let me know how you get on with the appointment.

  • Hi, it sounds like Lydia gets up the exact same way as Isaac, They took bloods and a urine sample yesterday and he has to go back in December for a review although when the paediatrician was watching him, he did say he wasnt as bad as thought he would be so hopefully that is encouraging, he did agree that he struggles alot more than he should do and said he should really be getting up and downstairs indepandantly by now, I guess thats why he wants to see him again in a few months, he did say for the moment it is a case of watching to see how he develops so I will just have to be patient, the trouble is that it is hard when we go to the park and to toddler groups and there are younger children doing a lot more, some of the parents just look at me like I am an over protective mother and make comments along the lines of "If you dont let him try to do it by himself he wont ever learn" That is so frustrating, he is my son and I know what he's capable of and I would love to just be able to sit down and watch froma distance but I can't becuase I know that he will end up falling and hurting himself or get stuck half way up.

    Whilst he was at the paed I asked about a small hole he has at the side of his ear, he said it is an open valve which should have closed up before he was born, every now and then it leaks some sort of puss which is revolting, the dr did say it ws a simple thing to deal with as the plastic surgeons will just cut it out, they may do it now or they may decide to leave it untill he is a bit older. Why is nothing ever simple, every time I go to the hospital something else seems to come up, I did joke with the dr and tell him that I was going to work my way round every department in the hospital by the time he was 5! Oh well keeps me busy I guess and at the end of the day there are worse things that could be wrong. Let me know how Lydia's appointment goes xx
  • Look at this way, you're getting your money's worth out of the NHS!!
  • :lol: That is one way of looking at it x
  • Hayley1. sounds like the dr is doing a good job but I would push for a neuro appt as they can see a lot more than a Paed although yours does sound lovely you wouldn't believe what the neuro team can spot its mad. Paul's neurologist gave me an examination too after examening baby and spotted things I didn't even realise I had like a high palate same as baby, and also very narrow muscles in me etc. and that fact that you and Megan have similar problems screams out to me as somethng genetic (I'm no dr though)

    anyway I get what you're saying about kids having hypermobile joints, Paul's neuro said mine and paul's are not the worst he's seen but it can be a direct result of the muscles not being strong enought to keep the joints secure which is why I've always thought since I started chatting to you that it sounds so similar to my situation. I'm not trying to worry you or anything, my neurologist set my mind at ease by saying as I've managed ok through my life it seems non progressing or very slowly progressing and in her experience of these sorts of muscle problems shouldn't adversly affect me in later life or get much worse or anything.

    I sympathise with you regards playground or playing in general, even my sisters somethimes tell me to chill out a bit if i ask them not to do something like try and lift him by the hands (he's very weak at the shoulder) i feel like saying back off you don't understand, i didn't go to standard mums and tots until he was much older as i was so consious of how different he was silly but just couldn't cope, we luckily had a secial needs nursery group wich is still a life saver now.

    toby2000 nice to see you on here again I know we've spoken before, dont think you knew whether your baby had a CM at that time. sounds like she's doing well. I'm currently being tested for Myasthenia Gravis, not sure abut it but no one has said anything about testing our DNA yet, it's all byopsy and muscle testing at the moment not sure how its funded.

    I think it's fab for us all to have each other to chat to, even if we're at different stages in the whole process, it can help so much to have someone living with similar issues so you don't feel competely alone.

    keep in touch girls x
  • I am back with the paed in December so I will ask about nuero appt then, someone gave me a book to read called the out on sync child and so far from what I have seen it is really good and helpful, it also gives ideas of what to ask at appointments and how lots of things may be linked. For example Isaac is very loud but oddly he is totally freaked out by loud noises such as sirens, airplanes and heavy rain he also has the most explosive tantrums I have ever seen, I have 3 other children so I have seen plenty of tantrums to caompare him with too.

    I know what you mean about other people not understanding, my sister is always trying to swing Isaac in the air by holding just his hands and even jokes about how I would explain a dislocated shoulder in a 2 year old at a and e. It is frustrating but its good to have people on here who understand how you feel. I read your other post about Paul walking, fantastic news you must be so proud xx
  • sounds good, I've tried to read up on things via the internet which sometimes freaks me out, but on the whole its been good as you can see where the dr's questions stem from which makes me feel a bit more in the loop as I do find it hard to remember what people have said at times.

    i think i'm now at the stage where i know there is an underlying problem, i know he isn't at the same stage as other kids his age, but as long as i take care of him physically and emotionally, he'll be fine, as long as he knows he's the best little boy and we focus on what he can do everything will be cool.

  • Thats a fantastic way of looking at it Chriss and so true, all the worrying and wanting in the world isnt going to make them like the other children and like you I have now realised that there is a problem and accepted it, trouble with me is I am a control freak and I just wish I knew exactly what it was.
  • haha yeah I'm a bit that way myself, the thing is the drs have said there is a very strong chance they may never find out exactly what it is if it is very rare they can only narrow it down to a possible group, but to be honest even if they do find out, it won't really have an impact on his care, he gets a lot of support already.

    I think it would be nice to know only for my sake really, i know i have the same and as its been so long withought knowing it would be nice to have a specific diagnosis but hey ho maybe in 10 years
  • Hi, thought I would give you an update on Isaac, he had his physio assesment today and his physio was fantastic, she asked loads of questions about him and played and watched him, she said he has very hypermobile joints with low muscle tone, the muscles in his calfs are very tight so she has given some stretches for me to do with him and she wants to see him again next week so she can finish off the assesment, apparantly the assesments can take ages and we had already been in for an hour today, next week she is going to try and get him climbing into and out of the ball pit to help him that way. She gave me loads of tips on how I can help him at home and when we are out and about. She did say that from what I had explained to her about his tantrums and dislike of certain noises and feel of certain things that his behaviour was a bit extreme, it could still fall into the boundaries of 'normal' toddler behaviour but it could also suggest something like a sensory disorder or dyspraxia, she also said that it is really difficult to diagnose things like that at his age but she will certainly be keeping an eye on him as he grows.

    Finally I feel like I am actually getting somewhere with him and that I am able to do something to help, I just can't believe it has take this long to get someone to listen.

    With Megan, she has just had another physio appopintment and the physio is so pleased with the improvement in her muscles that she has discharged her, I have to keep on with the excersizes and make sure that she keeps the strength there by keeping up with her swimming and things but its fantastic news, its amazing that 6 weeks of daily excersizes tailored to her needs has really helped, she has very little pain now and it is improving everyday. All in all things are going well.

    Hope you ladies are all ok and your los are getting on well, fantastic news that they are walking now. image
  • Oh my goodness that sounds so primising about Megan I am sooooooo pleased I recall how absolutely helpless you felt that she was in so much pain, you must feel very empowered and in controll now you are armed with all these new techniques to help her.

    I'm really glad you had such a good assessment with Isaac, I absolutely love Paul's Physio she teaches me so much about how to handle Paul to make sure I am helping him develop and push himself too.

    Isn't it amazing when you meet a professional that can just watch for a while and tell you things you never even noticed or realised I love it, it can give you so much more confidence in your ability to get on with things in a really constructive and positive way. That's kind of what I mean about seeing a Neurologist, they are so experienced in their field they can see things we and others may not notice or appreciate.

    I am really pleased you had such a good session, obviously I know it's only the beginning but you sound so much more positive about things.

    I hope things keep going well I'm sure they will, let us know how his next session goes.

    Paul has started hydrotherapy again this week, the pool has been off for ages due to faulty tiles and he did really well, it was months ago when he last went in with the physio and he could hardly hold his head up and only lasted about 10 mins, this week he was in for about 20 mins and did so well I was really pleased.

    It gives you a real boost too when the physio tells you how well they are doing as they can see how hard things are for them having low tone etc it reminds me how special my little boy is and how hard he works even when he's just having fun and playing it makes me really proud.

    very pleased things are moving on keep us posted x

  • Blimey, our little ones are making such good progress! It's wonderful to keep in touch like this. Lydia is getting stronger on her legs and is gaining in confidence. She will need some new boots soon as her feet have grown quite a bit. She is getting wuite heavy now and I'm finding it hard to get her in and out of the car and lift her upstairs etc.
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